Galactosemia Latest Advances

Novel Proactive Speech-Language Intervention Is More Effective Than Usual Care: Randomized Controlled Trial of Babble Boot Camp for Infants With Classic Galactosemia.

Journal: Journal of speech, language, and hearing research : JSLHR

Published: July 30, 2026

Evaluation of Nutritional Habits and Quality of Life of Mothers of Children With Metabolic Diseases Requiring a Restricted Diet.

Journal: Clinical pediatrics

Published: June 17, 2026

Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review.

Journal: Molecular genetics and metabolism

Published: June 04, 2026

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.

Journal: Frontiers in psychiatry

Published: March 22, 2026

Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity.

Journal: Clinical chemistry and laboratory medicine

Published: March 17, 2026

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens.

Journal: Diseases (Basel, Switzerland)

Published: March 12, 2026

Reproductive potential in classical galactosemia: A case series based perspective.

Journal: European journal of obstetrics & gynecology and reproductive biology: X

Published: March 01, 2026

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

Journal: Journal of tropical pediatrics

Published: February 01, 2026

Factors influencing adherence to dietary management in patients with classical galactosemia: A systematic review.

Journal: Clinical nutrition ESPEN

Published: January 31, 2026

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.

Journal: Frontiers in pediatrics

Published: January 15, 2026

Heritability of Long-Term Complications in Classic Galactosemia.

Journal: Journal of inherited metabolic disease

Published: December 19, 2025

Transcriptomic profiling of the ovarian immune landscape reveals distinct macrophage subsets and activation of the NLRP3 inflammasome likely contributing to accelerated follicular atresia in classic galactosemia.

Journal: Cell communication and signaling : CCS

Published: December 17, 2025

Galactosemia Latest Advances

Find the Latest Research About Galactosemia

Novel Proactive Speech-Language Intervention Is More Effective Than Usual Care: Randomized Controlled Trial of Babble Boot Camp for Infants With Classic Galactosemia.

Novel Proactive Speech-Language Intervention Is More Effective Than Usual Care: Randomized Controlled Trial of Babble Boot Camp for Infants With Classic Galactosemia.

Evaluation of Nutritional Habits and Quality of Life of Mothers of Children With Metabolic Diseases Requiring a Restricted Diet.

Evaluation of Nutritional Habits and Quality of Life of Mothers of Children With Metabolic Diseases Requiring a Restricted Diet.

Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review.

Global birth prevalence of galactosemia and the role of neonatal screening: A scoping review.

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.

Autism spectrum-related symptoms and clinical ASD diagnoses in children and adolescents with classical galactosemia: a descriptive clinical cohort study.

Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity.

Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity.

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens.

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens.

Reproductive potential in classical galactosemia: A case series based perspective.

Reproductive potential in classical galactosemia: A case series based perspective.

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.

Factors influencing adherence to dietary management in patients with classical galactosemia: A systematic review.

Factors influencing adherence to dietary management in patients with classical galactosemia: A systematic review.

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.

A retrospective cross-sectional study on newborn screening and prevalence of disorders among UAE population.

Heritability of Long-Term Complications in Classic Galactosemia.

Heritability of Long-Term Complications in Classic Galactosemia.

Transcriptomic profiling of the ovarian immune landscape reveals distinct macrophage subsets and activation of the NLRP3 inflammasome likely contributing to accelerated follicular atresia in classic galactosemia.

Transcriptomic profiling of the ovarian immune landscape reveals distinct macrophage subsets and activation of the NLRP3 inflammasome likely contributing to accelerated follicular atresia in classic galactosemia.